Canonical Allele Identifier: CA394343416
Gene: ABCA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2317668T>C , CM000678.2:g.2317668T>C GRCh38
NC_000016.9:g.2367669T>C , CM000678.1:g.2367669T>C GRCh37
NC_000016.8:g.2307670T>C NCBI36
NG_011790.1:g.28079A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.970A>G MANE Select ENSP00000301732.5:p.Thr324Ala
ENST00000301732.9:c.970A>G ENSP00000301732.5:p.Thr324Ala
ENST00000382381.7:c.970A>G ENSP00000371818.3:p.Thr324Ala
ENST00000563623.5:n.1533A>G
NM_001089.2:c.970A>G NP_001080.2:p.Thr324Ala
NM_001089.3:c.970A>G MANE Select NP_001080.2:p.Thr324Ala